What Is Galactosemia & How Is A Child’s Health Affected By It?

Galactosemia is a rare inherited disorder in which the body is unable to convert galactose into glucose. Lactose is the principle sugar of milk that is found in various milk products and even in breast milk. Galactose is available on breakdown of lactose. Several enzymes in the liver play the role for conversion of galactose into glucose.

However, when there is deficiency of these enzymes, galactose cannot be broken down. This leads to build up of galactose in the blood which acts as a poison and causes serious damage to the liver and nerve tissue.

Galactosemia in early infancy can cause liver cirrhosis if not detected and treated in the initial stage.

Causes Of Galactosemia

Galactosemia disease is rare. It has an incidence around 1; 60000 live births. It is a hereditary disorder. A child having this disease inherits defective genes from both the parents. Mutations in certain type of genes cause galactosemia. These genes are named as GALT, GALE and GALK1. They are located on chromosome 17 and 9. If one of the parents has the defective gene, at least 1 out of 4 children may have chance of suffering from this disease.

Person suffering from galactosemia is not able to breakdown galactose due to deficiency of the enzymes that are needed for its conversion from lactose, which is the primary sugar. Further galactose cannot be converted into glucose.

Symptoms Of Galactosemia In Infants

The symptoms of disease begin within few days after the birth of the child when he starts feeding on breast milk or formula milk. This may be presentation of severe form of galactosemia. The symptoms are vomiting, diarrhea, enlarged liver, jaundice, and accumulation of fluid in abdomen (ascites). Further the child may become acidotic and hypoglycemic. He can suffer from gram negative infection (e. coli) leading to septicemia and death.

In some children the manifestation appears gradually during the first 3 to 6 months. These children present with failure to thrive. The child is lethargic and irritable. There may be associated convulsion. If treatment is not started in the early stage it may lead to irreversible mental retardation in the child. The child may also suffer from cataract in first week of the disease.

Treatment Of Galactosemia In Infants

Galactosemia is a serious hereditary disease although it is rare. Deficiency of certain enzymes that are involved in conversion of galactose into glucose can be found from enzymetic blood studies.

Once the disease is diagnosed treatment consist of elimination of galactose from the diet. Such children are not fed galactose containing food, even breast milk. Even soybean preparation contains galactose and thus it should be avoided for feeding the child.

These children can be fed on lactose free formula. In majority of patients the defects regress once appropriate diet is started without milk products. Mother of babies suffering from galactosemia should consume restricted milk intake during subsequent pregnancies for complete prevention of mental defect in the child.